Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene
Summary
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers. The iPSC line will be useful for further elucidating the pathomechanism and/or drug development for IBGC. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Sekine SI, Kondo T, Murakami N, Imamura K, Enami T, Shibukawa R, Tsukita K, Funayama M, Inden M, Kurita H, Hozumi I, Inoue H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2017 Oct;24:40-43 |
| PubMed | 29034894 |
| DOI | 10.1016/j.scr.2017.07.028 |